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Fetal anomalies

Gene: PHF6

Green List (high evidence)

PHF6 (PHD finger protein 6)
EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for BOERJESON-FORSSMAN-LEHMANN SYNDROME
Created: 11 Dec 2018, 9:05 a.m.


Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Clinvar variants
Variants in PHF6
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PHF6 was added gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME